Genetic analysis of a fetus with mosaicism of structural aberration of Y chromosome.
10.3760/cma.j.cn511374-20201209-00861
- Author:
Huanxia XING
1
;
Kai YANG
Author Information
1. Langfang Maternal and Child Health Care Hospital, Hebei 065000, China. xinghuanxia2006@163.com.
- Publication Type:Journal Article
- MeSH:
Chromosomes, Human, Y/genetics*;
Female;
Fetus;
Humans;
In Situ Hybridization, Fluorescence;
Karyotype;
Mosaicism;
Pregnancy;
Prenatal Diagnosis
- From:
Chinese Journal of Medical Genetics
2021;38(12):1250-1253
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVE:To carry out genetic analysis and parental tracing for a fetus with an inconclusive chromosomal karyotype.
METHODS:The fetus and its parents were subjected to combined chromosomal karyotyping, chromosomal microarray analysis (CMA), fluorescence in situ hybridization (FISH) and multiplex PCR testing for Y chromosome microdeletions.
RESULTS:The fetus was found to have a karyotype of 45,X[18]/46,X,+mar[72]. CMA revealed that the fetus has carried a 2.6 Mb duplication at Yp11.32p11.31 and a 44.5 Mb deletion at Yq11.21q12. Interphase FISH of amniocytes confirmed the chromosomal mosaicism in the fetus, which has derived from Y chromosome. Multiplex PCR revealed deletion of AZFb and AZFc regions on the Y chromosome. No karyotypic abnormality was found with either parent at 400-band level.
CONCLUSION:Combined genetic analysis has delineated the aberrant karyotype in the fetus, which has facilitated prediction of its clinical phenotype and genetic counseling.
